A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759469



Internal ID9981614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:128952523..129121810hg38UCSC Ensembl
Innerchr6:129273668..129442955hg19UCSC Ensembl
Innerchr6:129315361..129484648hg18UCSC Ensembl
Innerchr6:129315361..129484648hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38169288
hg19169288
hg18169288
hg17169288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758079
SamplesNA18563, NA19000, NA18540
Known GenesLAMA2
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759469
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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